Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24
CUI: C1865596
Disease: Desmosterolosis
Desmosterolosis 		0.790 Biomarker GENOMICS_ENGLAND Desmosterolosis is a rare multiple congenital anomaly syndrome caused by a defect in the enzyme 3-beta-hydroxysterol delta-24-reductase (DHCR24) in the cholesterol biosynthesis pathway. 29175559

2018
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24
CUI: C1865596
Disease: Desmosterolosis
Desmosterolosis 		0.790 Biomarker GENOMICS_ENGLAND Desmosterolosis is an autosomal recessive disorder of cholesterol biosynthesis caused by biallelic mutations of DHCR24 (homozygous or compound heterozygous), which encodes 3-β-hydroxysterol Δ-24-reductase. 24961299

2014
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24
CUI: C1865596
Disease: Desmosterolosis
Desmosterolosis 		0.790 Biomarker GENOMICS_ENGLAND The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter. 21559050

2011
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24
CUI: C1865596
Disease: Desmosterolosis
Desmosterolosis 		0.790 Biomarker GENOMICS_ENGLAND The diagnosis of desmosterolosis was established by detection of significant elevation of plasma desmosterol levels and reduced enzyme activity of DHCR24 upon expression of the patient's DHCR24 cDNA in yeast. 21671375

2011